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Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing a...

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Dettagli Bibliografici
Pubblicato in:Nucleic Acids Res
Autori principali: Ardui, Simon, Ameur, Adam, Vermeesch, Joris R, Hestand, Matthew S
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5861413/
https://ncbi.nlm.nih.gov/pubmed/29401301
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gky066
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